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Brachydactyly type E in an Italian family with 6p25 trisomy.
Fontana, Paolo; Tortora, Cristina; Petillo, Roberta; Malacarne, Michela; Cavani, Simona; Miniero, Martina; D'Ambrosio, Paola; De Brasi, Davide; Pisanti, Maria Antonietta.
Afiliação
  • Fontana P; Department of Molecular Medicine and Medical Biotechnologies, Federico II University of Naples, Naples, Italy. Electronic address: sibusiso.fontana@gmail.com.
  • Tortora C; Department of Molecular Medicine and Medical Biotechnologies, Federico II University of Naples, Naples, Italy.
  • Petillo R; Cardiomiology and Medical Genetics, Department of Experimental Medicine, Second University of Naples, Naples, Italy.
  • Malacarne M; Division of Medical Genetics, Galliera Hospital, Genoa, Italy.
  • Cavani S; Division of Medical Genetics, Galliera Hospital, Genoa, Italy.
  • Miniero M; Department of Molecular Medicine and Medical Biotechnologies, Federico II University of Naples, Naples, Italy.
  • D'Ambrosio P; Cardiomiology and Medical Genetics, Department of Experimental Medicine, Second University of Naples, Naples, Italy.
  • De Brasi D; Service of Medical Genetics, Cardarelli Hospital, Naples, Italy.
  • Pisanti MA; Service of Medical Genetics, Cardarelli Hospital, Naples, Italy.
Eur J Med Genet ; 60(3): 195-199, 2017 Mar.
Article em En | MEDLINE | ID: mdl-28111183
ABSTRACT
Brachydactyly type E is a congenital limb malformation characterized by small hands and feet as a result of shortened metacarpals and metatarsals. Genetic causes of this anomaly are heterogeneous and only partially characterized. In this report we describe an Italian family in which four subjects share brachydactyly type E and a 3 Mb microduplication in region 6p25. The duplication involves the gene FOXC1, expressed during the osteoblast differentiation, which appears a potential candidate gene for brachydactyly.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Trissomia / Fatores de Transcrição Forkhead / Braquidactilia Limite: Adult / Female / Humans / Infant / Middle aged País/Região como assunto: Europa Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Trissomia / Fatores de Transcrição Forkhead / Braquidactilia Limite: Adult / Female / Humans / Infant / Middle aged País/Região como assunto: Europa Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article